| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583459G>T | CA008840 | KCNQ1 | c.685G>T (p.Gly229Trp) c.502G>T (p.Gly168Trp) c.946G>T (p.Gly316Trp) c.565G>T (p.Gly189Trp) c.148G>T (p.Gly50Trp) | ClinVar dbSNP |
| 11 | g.2583459G>A | CA008823 | KCNQ1 | c.685G>A (p.Gly229Arg) c.502G>A (p.Gly168Arg) c.946G>A (p.Gly316Arg) c.565G>A (p.Gly189Arg) c.148G>A (p.Gly50Arg) | ClinVar dbSNP |
| 11 | g.2583459G>C | CA008832 | KCNQ1 | c.685G>C (p.Gly229Arg) c.502G>C (p.Gly168Arg) c.946G>C (p.Gly316Arg) c.565G>C (p.Gly189Arg) c.148G>C (p.Gly50Arg) | ClinVar dbSNP |
| 11 | g.2583459G= | CA1948224751 | KCNQ1 | c.685G= (p.Gly229=) c.502G= (p.Gly168=) c.946G= (p.Gly316=) c.565G= (p.Gly189=) c.148G= (p.Gly50=) | dbSNP |